Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Abstract Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. Th...

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Bibliographic Details
Main Author: Dominique P. Germain
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Pseudoxanthoma elasticum
Metabolic disease
Ectopic mineralization
Skin
Angioid streak
Choroidal neovascularization
Online Access:http://link.springer.com/article/10.1186/s13023-017-0639-8

Internet

http://link.springer.com/article/10.1186/s13023-017-0639-8

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